by Billy Anton | Feb 25, 2019 | Diagnosis, EDUCATION, Genetics, RESEARCH
Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype Stephanie D. Davis et al. Link to study abstract Understanding and identifying the relationship between genotype (gene mutation) and phenotype (observable clinical...
by Lynn Ehrne | Jun 28, 2018 | Diagnosis
Using rigorous evidence-based analysis, this document provides an overview of available information related to best practices for diagnosing PCD and addresses some of the challenges and misinformation currently confronting clinicians and patients in their PCD...
by Michele Manion | Oct 23, 2017 | Diagnosis, Genetic Testing, Genetics
PCD diagnosis continues to be challenging. All current testing options available to aid in PCD diagnosis (biopsy with TEM, nasal nitric oxide measurement, high-speed videomicroscopy, immunofluorescent assay of ciliary proteins) have limitations and do not work in all...
by pcdfoundation | Feb 10, 2017 | Advocacy, Diagnosis
In 2015, some of the brightest minds in PCD, including top pulmonologists, medical professionals, and PCDF founder and executive director Michele Manion, published recommendations for diagnosis, monitoring, and treatment of primary ciliary dyskinesia. In developing...
